Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs119476046
rs119476046
5 0.827 0.240 14 50613343 missense variant C/T snv 0.700 1.000 8 2001 2015
dbSNP: rs1555365597
rs1555365597
5 0.925 0.040 14 50623194 missense variant C/A snv 0.700 0
dbSNP: rs200314808
rs200314808
1 1.000 14 50587992 missense variant G/A;C snv 4.0E-06; 8.0E-05 0.700 0